The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

Links

 

Gene Review

Nsdhl  -  NAD(P) dependent steroid dehydrogenase-like

Mus musculus

Synonyms: AI747449, Bpa, H105E3, Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating, Str, ...
 
 
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

Disease relevance of Nsdhl

 

High impact information on Nsdhl

  • The Bpa gene has recently been identified and encodes a protein with homology to 3beta-hydroxysteroid dehydrogenases that functions in one of the later steps of cholesterol biosynthesis [6].
  • Our results demonstrate that Bpa and Str are allelic mutations and identify the first mammalian locus associated with an X-linked dominant, male-lethal phenotype [7].
  • Here we report mutations in one of these genes, Nsdhl, encoding an NAD(P)H steroid dehydrogenase-like protein, in two independent Bpa and three independent Str alleles [7].
  • The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase [7].
  • The transgene is transcribed in peritoneal cells, as well as in eyes and infiltrated striated muscle [8].
 

Chemical compound and disease context of Nsdhl

 

Biological context of Nsdhl

  • Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development [14].
  • 0. Using a ubiquitously expressed, X-linked lacZ transgene that undergoes normal X-inactivation, we demonstrate that the placental defects in Nsdhl/+ female embryos are non-cell autonomous [14].
  • Comparative genome sequence analysis of the Bpa/Str region in mouse and Man [15].
  • Bpa and Str have been localized to an overlapping critical region of 600 kb that demonstrates conserved gene order with loci in human Xq28 between DXS1104 and DXS52 [16].
  • Our analysis used gene prediction and a database search of 430 kb of genomic sequence covering the Bpa/Str region of the mouse X chromosome, and 745 kb of genomic sequence from the homologous human X chromosome region [15].
 

Anatomical context of Nsdhl

 

Associations of Nsdhl with chemical compounds

 

Physical interactions of Nsdhl

 

Co-localisations of Nsdhl

 

Regulatory relationships of Nsdhl

  • Raf-1 transcripts of 3.1 kb were found to be expressed in all tissues examined with highest levels in striated muscle, cerebellum and fetal brain [28].
  • Adhalin was specifically expressed in striated muscle cells and their immediate precursors, and absent in many other cell types [29].
  • Deletion of cytosolic phospholipase A2 promotes striated muscle growth [21].
  • The beta-enolase gene is expressed only in striated muscles [30].
  • Murine Bcl-2 was light to moderately expressed in the latero-basal domain of cells of submandibular acini but was only lightly expressed in striated and eosinophilic ducts [31].
 

Other interactions of Nsdhl

 

Analytical, diagnostic and therapeutic context of Nsdhl

References

  1. Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2. Aradhya, S., Nelson, D.L., Heiss, N.S., Poustka, A., Woffendin, H., Kenwrick, S., Esposito, T., Ciccodicola, A., Bardaro, T., D'Urso, M., Smahi, A., Munnich, A., Herman, G.E., Lewis, R.A. Am. J. Med. Genet. (2000) [Pubmed]
  2. The Str mouse as a model for incontinentia pigmenti. Perkovic, T., Duh, D., Peterlin, B., Gregoric, J. Pflugers Arch. (2000) [Pubmed]
  3. Progressive encephalopathy and myopathy in transgenic mice expressing human foamy virus genes. Bothe, K., Aguzzi, A., Lassmann, H., Rethwilm, A., Horak, I. Science (1991) [Pubmed]
  4. How do mutations in lamins A and C cause disease? Worman, H.J., Courvalin, J.C. J. Clin. Invest. (2004) [Pubmed]
  5. Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. Zhou, Q., Chu, P.H., Huang, C., Cheng, C.F., Martone, M.E., Knoll, G., Shelton, G.D., Evans, S., Chen, J. J. Cell Biol. (2001) [Pubmed]
  6. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com. Derry, J.M., Gormally, E., Means, G.D., Zhao, W., Meindl, A., Kelley, R.I., Boyd, Y., Herman, G.E. Nat. Genet. (1999) [Pubmed]
  7. The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Liu, X.Y., Dangel, A.W., Kelley, R.I., Zhao, W., Denny, P., Botcherby, M., Cattanach, B., Peters, J., Hunsicker, P.R., Mallon, A.M., Strivens, M.A., Bate, R., Miller, W., Rhodes, M., Brown, S.D., Herman, G.E. Nat. Genet. (1999) [Pubmed]
  8. Transgenic mice expressing a hemopoietic growth factor gene (GM-CSF) develop accumulations of macrophages, blindness, and a fatal syndrome of tissue damage. Lang, R.A., Metcalf, D., Cuthbertson, R.A., Lyons, I., Stanley, E., Kelso, A., Kannourakis, G., Williamson, D.J., Klintworth, G.K., Gonda, T.J. Cell (1987) [Pubmed]
  9. Ankyrin-B is required for intracellular sorting of structurally diverse Ca2+ homeostasis proteins. Tuvia, S., Buhusi, M., Davis, L., Reedy, M., Bennett, V. J. Cell Biol. (1999) [Pubmed]
  10. Actin and myosin expression during development of cardiac muscle from cultured embryonal carcinoma cells. Rudnicki, M.A., Jackowski, G., Saggin, L., McBurney, M.W. Dev. Biol. (1990) [Pubmed]
  11. Comparative chemotherapeutic activity of new fluorinated 4-quinolones and standard agents against a variety of bacteria in a mouse infection model. Sesnie, J.C., Fritsch, P.W., Griffin, T.J., Heifetz, C.L., Leopold, E.T., Malta, T.E., Shapiro, M.A., Vincent, P.W. J. Antimicrob. Chemother. (1989) [Pubmed]
  12. Activity of FCE 22891 compared with cefuroxime axetil and cefixime in pulmonary and subcutaneous infections in mice. Rossi, R., Castellani, P., Younes, G., Della Bruna, C. J. Antimicrob. Chemother. (1989) [Pubmed]
  13. Synergy between spiramycin and metronidazole in the treatment of polymicrobial infections. Brook, I. J. Antimicrob. Chemother. (1988) [Pubmed]
  14. Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development. Jiang, F., Herman, G.E. Hum. Mol. Genet. (2006) [Pubmed]
  15. Comparative genome sequence analysis of the Bpa/Str region in mouse and Man. Mallon, A.M., Platzer, M., Bate, R., Gloeckner, G., Botcherby, M.R., Nordsiek, G., Strivens, M.A., Kioschis, P., Dangel, A., Cunningham, D., Straw, R.N., Weston, P., Gilbert, M., Fernando, S., Goodall, K., Hunter, G., Greystrong, J.S., Clarke, D., Kimberley, C., Goerdes, M., Blechschmidt, K., Rump, A., Hinzmann, B., Mundy, C.R., Miller, W., Poustka, A., Herman, G.E., Rhodes, M., Denny, P., Rosenthal, A., Brown, S.D. Genome Res. (2000) [Pubmed]
  16. A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28. Levin, M.L., Chatterjee, A., Pragliola, A., Worley, K.C., Wehnert, M., Zhuchenko, O., Smith, R.F., Lee, C.C., Herman, G.E. Genome Res. (1996) [Pubmed]
  17. Dystrophin gene transcribed from different promoters in neuronal and glial cells. Chelly, J., Hamard, G., Koulakoff, A., Kaplan, J.C., Kahn, A., Berwald-Netter, Y. Nature (1990) [Pubmed]
  18. Striated muscle fibres differentiate in monolayer cultures of adult thymus reticulum. Wekerle, T.H., paterson, B., Ketelsen, U., Feldman, M. Nature (1975) [Pubmed]
  19. Systemic delivery of genes to striated muscles using adeno-associated viral vectors. Gregorevic, P., Blankinship, M.J., Allen, J.M., Crawford, R.W., Meuse, L., Miller, D.G., Russell, D.W., Chamberlain, J.S. Nat. Med. (2004) [Pubmed]
  20. Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast. Lucas, M.E., Ma, Q., Cunningham, D., Peters, J., Cattanach, B., Bard, M., Elmore, B.K., Herman, G.E. Mol. Genet. Metab. (2003) [Pubmed]
  21. Deletion of cytosolic phospholipase A2 promotes striated muscle growth. Haq, S., Kilter, H., Michael, A., Tao, J., O'Leary, E., Sun, X.M., Walters, B., Bhattacharya, K., Chen, X., Cui, L., Andreucci, M., Rosenzweig, A., Guerrero, J.L., Patten, R., Liao, R., Molkentin, J., Picard, M., Bonventre, J.V., Force, T. Nat. Med. (2003) [Pubmed]
  22. Peripheral but not hepatic insulin resistance in mice with one disrupted allele of the glucose transporter type 4 (GLUT4) gene. Rossetti, L., Stenbit, A.E., Chen, W., Hu, M., Barzilai, N., Katz, E.B., Charron, M.J. J. Clin. Invest. (1997) [Pubmed]
  23. Beta 1D integrin displaces the beta 1A isoform in striated muscles: localization at junctional structures and signaling potential in nonmuscle cells. Belkin, A.M., Zhidkova, N.I., Balzac, F., Altruda, F., Tomatis, D., Maier, A., Tarone, G., Koteliansky, V.E., Burridge, K. J. Cell Biol. (1996) [Pubmed]
  24. Effects of streptozotocin-induced diabetes and physical training on gene expression of titin-based stretch-sensing complexes in mouse striated muscle. Lehti, T.M., Silvennoinen, M., Kivelä, R., Kainulainen, H., Komulainen, J. Am. J. Physiol. Endocrinol. Metab. (2007) [Pubmed]
  25. Sarcospan-deficient mice maintain normal muscle function. Lebakken, C.S., Venzke, D.P., Hrstka, R.F., Consolino, C.M., Faulkner, J.A., Williamson, R.A., Campbell, K.P. Mol. Cell. Biol. (2000) [Pubmed]
  26. E-Tmod capping of actin filaments at the slow-growing end is required to establish mouse embryonic circulation. Chu, X., Chen, J., Reedy, M.C., Vera, C., Sung, K.L., Sung, L.A. Am. J. Physiol. Heart Circ. Physiol. (2003) [Pubmed]
  27. Localization and kinetics of protein kinase C-epsilon anchoring in cardiac myocytes. Robia, S.L., Ghanta, J., Robu, V.G., Walker, J.W. Biophys. J. (2001) [Pubmed]
  28. Expression of raf family proto-oncogenes in normal mouse tissues. Storm, S.M., Cleveland, J.L., Rapp, U.R. Oncogene (1990) [Pubmed]
  29. Mouse adhalin: primary structure and expression during late stages of muscle differentiation in vitro. Liu, L., Vachon, P.H., Kuang, W., Xu, H., Wewer, U.M., Kylsten, P., Engvall, E. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  30. Activation of the gene encoding the glycolytic enzyme beta-enolase during early myogenesis precedes an increased expression during fetal muscle development. Keller, A., Ott, M.O., Lamandé, N., Lucas, M., Gros, F., Buckingham, M., Lazar, M. Mech. Dev. (1992) [Pubmed]
  31. Cellular basis and clinical implications of biological markers in salivary tissues: their topological distribution in murine submandibular gland. Actis, A.B., Lampe, P.D., Eynard, A.R. Oral Oncol. (2002) [Pubmed]
  32. Proinflammatory consequences of transgenic fas ligand expression in the heart. Nelson, D.P., Setser, E., Hall, D.G., Schwartz, S.M., Hewitt, T., Klevitsky, R., Osinska, H., Bellgrau, D., Duke, R.C., Robbins, J. J. Clin. Invest. (2000) [Pubmed]
  33. Aberrant myofibril assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethality. Fritz-Six, K.L., Cox, P.R., Fischer, R.S., Xu, B., Gregorio, C.C., Zoghbi, H.Y., Fowler, V.M. J. Cell Biol. (2003) [Pubmed]
  34. Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Mientjes, E.J., Willemsen, R., Kirkpatrick, L.L., Nieuwenhuizen, I.M., Hoogeveen-Westerveld, M., Verweij, M., Reis, S., Bardoni, B., Hoogeveen, A.T., Oostra, B.A., Nelson, D.L. Hum. Mol. Genet. (2004) [Pubmed]
  35. Developmental regulation of creatine kinase gene expression by myogenic factors in embryonic mouse and chick skeletal muscle. Lyons, G.E., Mühlebach, S., Moser, A., Masood, R., Paterson, B.M., Buckingham, M.E., Perriard, J.C. Development (1991) [Pubmed]
  36. Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. Sunada, Y., Bernier, S.M., Kozak, C.A., Yamada, Y., Campbell, K.P. J. Biol. Chem. (1994) [Pubmed]
  37. NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. Caldas, H., Herman, G.E. Hum. Mol. Genet. (2003) [Pubmed]
  38. Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain. Nudel, U., Robzyk, K., Yaffe, D. Nature (1988) [Pubmed]
  39. Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. Bang, M.L., Mudry, R.E., McElhinny, A.S., Trombitás, K., Geach, A.J., Yamasaki, R., Sorimachi, H., Granzier, H., Gregorio, C.C., Labeit, S. J. Cell Biol. (2001) [Pubmed]
  40. The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle. Byers, T.J., Kunkel, L.M., Watkins, S.C. J. Cell Biol. (1991) [Pubmed]
 
WikiGenes - Universities